Irish Lives: Youth with rare disorder says HSE blocking treatment abroad

Every morning just after he wakes up, Jamie O’Brien begins what he calls the “snapping session”, the painful process of resetting every bone joint that has become dislocated during his sleep.

"I pretty much have to wake up and put my knees back in their joints," the 22-year-old from Ardee, Co Louth, says. "I have to put my elbows back in, my wrists, fingers, neck."

O’Brien suffers from a rare connective tissue disorder, Ehlers-Danlos syndrome type III, which causes the joints in his body to come out of place on a daily basis. His condition will continue to deteriorate unless he receives treatment from a specialist centre in the UK, but he says trying to deal with the HSE Treatment Abroad Scheme is like “constantly hitting a brick wall”.

About one in 15,000 people have Ehlers-Danlos syndrome type III but O’Brien’s is an acute case. He was told by specialists at a leading research centre in Belgium that he was the first person they saw who had the condition “in every single joint from head to toe to such a serious extent”.

He was about eight when the symptoms started to show. In school he began to find writing extremely painful but he put it down to writer’s cramp. “I had no clue that my fingers were actually dislocating from their sockets,” he recalls. He couldn’t play sports or play with toys either without injuring himself, but he got little sympathy from adults. Doctors and teachers told his parents not to worry, that he was faking it to get off school.

But over the years his injuries continued to mount until, eventually, his mother came to the attention of social services. “When I dislocated my ankle one day my mum said to me, ‘Jamie I can’t go back into A&E, I can’t show my face in there because they assume it’s me who’s doing it to you and I can’t have social services calling down any more’.”

So she brought him to a sports injury specialist who examined his ankle and quickly realised it was no ordinary dislocation. The specialist believed it might be Ehlers-Danlos syndrome, which he had previously encountered while working in New Zealand. “Within six months I was diagnosed,” recalls O’Brien. He was 16.

“When I got diagnosed I was really happy because then I could say to my GP ‘Ha-ha, see, I wasn’t faking it!’” After eight years he finally knew what was wrong. The next step was to find treatment.

He travelled to a neuro-musculoskeletal hospital in Stanmore, London, to meet Prof Rodney Grahame who referred him to Dr Helen Cohen, also in London. She told him he badly needed help, that his joints were "more severe than most people I've seen come to the clinic".

She arranged a treatment schedule but three days before it was due to begin last autumn, O’Brien says, the Treatment Abroad Scheme informed him it would not grant him an E112 form, a commitment by the HSE to pay the cost of treatment.

According to O’Brien, they refused on grounds he was travelling only to get a second opinion, although he and his mother argued that the purpose of the trip was treatment. Having clarified this point, O’Brien made subsequent applications but in each instance the Treatment Abroad Scheme rejected them on fresh grounds.

“I am stuck in Limbo,” he says, adding that he feels “horrible – I just feel like they’re looking at a person’s name on a piece of paper, they’re not looking at the actual people themselves”.

The HSE and the treatment scheme failed to reply to queries from The Irish Times .

The condition has had a devastating impact on O’Brien’s life. His wrists dislocate about eight times a day and in the past three weeks he has travelled to A&E departments “seven or eight times” to get his left shoulder put back in place. He can’t socialise properly and had to drop out of a multimedia course in Dundalk IT because he missed so much time due to hospital visits.

Now, after years of campaigning for treatment, he feels his strength waning. “I’ve been fighting for the last while,” he says, “trying to get my treatment and stuff like that and trying to get awareness but lately it’s kind of changed a bit.

“I’ve kind of given up on the whole fighting thing. I’ve kind of stopped fighting and I’m more pleading now with anyone that’s out there, if they could help I’m pleading with them to try because it really has gotten to the point where I feel like I can’t do it any more.”